SMARCAL1 Gene
protein-coding GIFtS: 57
GCID: GC02P217277
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SWI/SNF related, matrix associated, actin dependent regulator...
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Aliases for SMARCAL1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin,Subfamily A-Like 11 2 | | SMARCA-Like Protein 12 | | HARP1 2 3 5 | | SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of ChromatinSubfamily A-Like Protein 12 | | HHARP1 2 | | EC 3.6.4.-3 | | Sucrose Nonfermenting Protein 2-Like 12 3 | | HHARP1 2 | | HepA-Related Protein2 3 | | SIOD5 | | ATP-Driven Annealing Helicase2 | | EC 3.6.18 |
Export aliases for SMARCAL1 gene to outside databasesPrevious GC identifers: GC02P215378 GC02P215998 GC02P217241 GC02P217481 GC02P217102 GC02P216985 GC02P209131 |
Summaries for SMARCAL1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for SMARCAL1: The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicaseand ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structurearound those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA.Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with thediagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. (provided byRefSeq, Jul 2008) UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9Function: ATP-dependent annealing helicase that catalyzes the rewinding of the stably unwound DNA. Rewindssingle-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome toreanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, thatunwind DNA Gene Wiki entry for SMARCAL1
|
Genomic Views for SMARCAL1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SMARCAL1 gene promoter: AhR AML1a RREB-1 CUTL1 Gfi-1 Arnt Other transcription factors
Search SABiosciences Chromatin IP Primers for SMARCAL1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCAL1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q35 Ensembl cytogenetic band: 2q35 HGNC cytogenetic band: 2q35SMARCAL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P217277: view genomic region
(about GC identifiers)
Start:
|
217,277,137 bp from pter |
End:
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217,347,776 bp from pter |
Size:
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70,640 bases |
Orientation:
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plus strand |
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Proteins for SMARCAL1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9 (See
protein sequence)Recommended Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 Size: 954 amino acids; 105938 Da
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=BAA90955.1; Type=Erroneous initiation;
Secondary accessions: A6NEH0 Q53R00 Q96AY1 Q9NXQ5 Q9UFH3 Q9UI93Explore the universe of human proteins at neXtProt for SMARCAL1: NX_Q9NZC9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NZC9 4/18 DME Specific Peptides for SMARCAL1 (Q9NZC9) (see all 18)
SMARCAL1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001120679.1 NP_054859.2 ENSEMBL proteins: ENSP00000405077 ENSP00000349823 ENSP00000398969 ENSP00000394410 ENSP00000350940 ENSP00000402967 ENSP00000392997 ENSP00000375974 ENSP00000390248 ENSP00000400473 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
SMARCAL1 for ontologies About GeneDecksing
SMARCAL1 Antibody Products: Assay Products for SMARCAL1: |
Protein
Domains / Families for SMARCAL1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SMARCAL1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NZC9ProtoNet protein and cluster: Q9NZC9 1 Blocks protein family: IPB000330 SNF2 related domain
UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9Similarity: Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamilySimilarity: Contains 2 HARP domainsSimilarity: Contains 1 helicase ATP-binding domainSimilarity: Contains 1 helicase C-terminal domain |
Function for SMARCAL1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9Function: ATP-dependent annealing helicase that catalyzes the rewinding of the stably unwound DNA. Rewindssingle-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome toreanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, thatunwind DNAEnzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCAL1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCAL1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SMARCAL1 (NM_014140) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMARCAL1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMARCAL1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCAL1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
SMARCAL1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for SMARCAL1: Animal Models: Mouse knock-out Smarcal1tm1.1Cfbo for SMARCAL1 10 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Smarcal1):
SMARCAL1 for phenotypes About GeneDecksing
|
Pathways & Interactions for SMARCAL1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | AMPK Enzyme Complex Pathway | | | 2 | PEDF Induced Signaling | |
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCAL1
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMARCAL1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 10)
 5/40 Interacting proteins for SMARCAL1 (Q9NZC92 ENSP000003498234) via UniProtKB, MINT, STRING, and/or I2D (see all 40)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
SMARCAL1 for ontologies About GeneDecksing
|
Drugs & Compounds for SMARCAL1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for SMARCAL1 Search CenterWatch for drugs/clinical trials and news about SMARCAL1 / SMAL1 
|
Transcripts for SMARCAL1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for SMARCAL1 gene (2 alternative transcripts): NM_001127207.1 NM_014140.3 Unigene Cluster for SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 Hs.516674 [show with all ESTs]Unigene Representative Sequence: NM_01414013 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000430374 ENST00000357276(uc002vgc.4 uc010fvg.3) ENST00000444508 ENST00000425815 ENST00000358207(uc002vgd.4) ENST00000496037 ENST00000434435 ENST00000427645 ENST00000392128 ENST00000412913 ENST00000479008 ENST00000445153 ENST00000486983
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCAL1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCAL1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SMARCAL1 (NM_014140) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMARCAL1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMARCAL1  |
Additional cDNA sequence: AF082179.1 AF432223.1 AK000117.1 AK023780.1 AL122076.1 BC016482.1 BC029994.1 BC043341.1 11 DOTS entries: DT.313761 DT.100779815 DT.100779813 DT.100809732 DT.120948442 DT.92432243 DT.100763879 DT.100779816 DT.75102274 DT.100656101 DT.120948509 24/133 AceView cDNA sequences (see all 133): BG392496 CD251978 BU168029 CR599402 BC043341 BX437870 BE886940 C02558 BQ642551 CD367765 BE206886 BC016482 AI702289 AL548439 BM987520 AA810602 AL122076 BF343712 NM_014140 BE145741 AI817660 BG258514 CR622730 AU124184 GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCAL1 About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | |
| SP1: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for SMARCAL1
|
Expression for SMARCAL1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SMARCAL1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GAATTGAAAT
About this image See SMARCAL1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SMARCAL1
SOURCE GeneReport for Unigene cluster: Hs.516674 UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9Tissue specificity: Ubiquitously expressed, with high levels in testis SABiosciences Custom PCR Arrays for SMARCAL1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMARCAL1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMARCAL1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMARCAL1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMARCAL1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCAL1 |
Orthologs for SMARCAL1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SMARCAL1 gene from 9/28 species (see all 28) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Smarcal11 , 5 |
SWI/SNF related matrix associated, actin dependent more1, 5 |
80.18(n)1 75.75(a)1 |
  |
1 (36.72 cM)5 543801 NM_018817.21 NP_061287.21 725832515 |
chicken (Gallus gallus) |
Aves |
SMARCAL11 |
SWI/SNF related, matrix associated, actin dependent more |
61.22(n) 59.26(a) |
  |
396031 XM_422070.3 XP_422070.3 |
lizard (Anolis carolinensis) |
Reptilia |
SMARCAL16 |
-- |
59(a) |
1 ↔ 1 |
GL343674.1(32833-74440) |
African clawed frog (Xenopus laevis) |
Amphibia |
BI477653.12 |
-- |
74.85(n) |
  |
BI477653.1 |
zebrafish (Danio rerio) |
Actinopterygii |
570475522 |
-- |
72.36(n) |
  |
57047552 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG37533 Marcal11 |
helicase3 CG3753-PA1 |
40(a)3 50.26(n)1 42.12(a)1 |
  |
25B43 337091 NM_135039.11 NP_608883.11 |
worm (Caenorhabditis elegans) |
Secernentea |
C16A3.1b3 C16A3.11 |
Protein C16A3.11 |
37(a) (best of 3)3 49.06(n)1 40.6(a)1 |
  |
III(6462711-6465437)3 1759071 NM_065999.31 NP_498400.11 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
CHR181 |
chromatin remodeling factor18 |
48.15(n) 40.5(a) |
  |
841251 NM_103728.4 NP_175265.3 |
rice (Oryza sativa) |
Liliopsida |
Os07g06362001 |
hypothetical protein |
47.79(n) 41.65(a) |
  |
4344031 NM_001066928.1 NP_001060393.1 |
ENSEMBL Gene Tree for SMARCAL1 (if available) TreeFam Gene Tree for SMARCAL1 (if available)  |
Paralogs for SMARCAL1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for SMARCAL1 gene
- BTAF12 ZRANB32
1 SIMAP similar gene for SMARCAL1 using alignment to 9 protein entries: SMAL1_HUMAN (see all proteins):ZRANB3
SMARCAL1 for paralogs About GeneDecksing
|
Genomic Variants for SMARCAL1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 2 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SMARCAL1 (217277137 - 217347776 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SMARCAL1: -- Human Gene Mutation Database (HGMD): SMARCAL1
Locus Specific Mutation Databases (LSDB): SMARCAL1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMARCAL1 |
|
Disorders
/ Diseases for SMARCAL1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SMARCAL1 for disorders About GeneDecksing
OMIM gene information: 606622 OMIM disorders: 242900 UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9
Defects in SMARCAL1 are a cause of Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]. SIOD causesspondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients alsoexhibit hyperthyroidism, while around half also exhibit episodal cerebral ischema 15 diseases for SMARCAL1: About MalaCardsschimke immunoosseous dysplasia spondyloepiphyseal dysplasia steroid-resistant nephrotic syndrome immunodeficiency craniofacial abnormalities osseous dysplasia nephrotic syndrome evans' syndrome skin papilloma papilloma t cell deficiency pneumonia tuberculosis malaria mycobacterium tuberculosis 3 diseases from the University of Copenhagen DISEASES database for SMARCAL1:T cell deficiency Nephrotic syndrome Focal segmental glomerulosclerosis 5 Novoseek disease relationships for SMARCAL1 gene About this table
GeneTests: SMARCAL1 Schimke Immunoosseous Dysplasia Human Genome Epidemiology (HuGE) Navigator: SMARCAL1 (1 document) Export disorders for SMARCAL1 gene to outside databases
|
Publications for SMARCAL1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SMARCAL1 gene, integrated from 9 sources (see all 44): (articles sorted by number of sources associating them with SMARCAL1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA- related SNF2 helicase protein from human and mouse. (PubMed id 10857751)1, 2, 3, 9 Coleman M.A.... Mohrenweiser H.W. (2000)
- HARP is an ATP-driven annealing helicase. (PubMed id 18974355)1, 2, 3 Yusufzai T. and Kadonaga J.T. (2008)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno- osseous dysplasia. (PubMed id 11799392)1, 2 Boerkoel C.F.... Stockton D.W. (2002)
- A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements. (PubMed id 10713074)1, 3 Muthuswami R....Hockensmith J.W. (2000)
- Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. (PubMed id 18805831)1, 9 Elizondo L.I....Boerkoel C.F. (2009)
- The annealing helicase SMARCAL1 maintains genome inte grity at stalled replication forks. (PubMed id 19793861)1, 9 Bansbach C.E....Cortez D. (2009)
- Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype. (PubMed id 18356746)1, 9 Dekel B....Anikster Y. (2008)
- Schimke immunoosseous dysplasia: suggestions of genetic diversity. (PubMed id 17089404)1, 9 Clewing J.M....Boerkoel C.F. (2007)
|
External Searches for SMARCAL1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SMARCAL1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SMARCAL1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SMARCAL1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for SMARCAL1 | Pharmacogenomics, SNPs, Pathways | | SMARCAL1base | http://bioinf.uta.fi/SMARCAL1base/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SMARCAL1 |
|
| | |
About This Section
| Patent Information for SMARCAL1 gene: Search GeneIP for patents involving SMARCAL1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for SMARCAL1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for SMARCAL1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMARCAL1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMARCAL1 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for SMARCAL1 | | OriGene 3'-UTR Clone for SMARCAL1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCAL1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCAL1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for SMARCAL1 | | OriGene Custom Protein Services for SMARCAL1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SMARCAL1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMARCAL1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCAL1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMARCAL1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMARCAL1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMARCAL1 |
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 | | SMARCAL1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCAL1 |
|  |  |  | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMARCAL1 |
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